OBO ID: DOID:0060653
Term Name: lethal congenital contracture syndrome 3 Search Ontology:
Synonyms:
  • Israeli Bedouin type B multiple contracture syndrome
Definition: A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/17701898
References:
Ontology: Human Disease   ( DOID:0060653 )
Relationships
is a type of:
OTHER lethal congenital contracture syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PIP5K1C Lethal congenital contractural syndrome 3 611369
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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